Whole Exome Sequencing involves the sequencing of only the protein-coding regions present in the genome. Using exome enrichment, WES can efficiently identify variations in coding regions importantly in clinical diagnostics but also across other applications like population genetics. The human exome represents less than 2% of the genome, but approximately 85% of this exome contains known disease-related variants,making WES a significant cost-effective alternative to WGS. Bioinformatics analysis involves Controlling the quality of raw data , Alignment of the genome with the reference genome , Statistics analysis and SNP/InDel calling (germline and somatic) , Monogenic illnesses, complex/multifactorial disorders, and cancer are among the advanced analyses and much more.

Advantages of Whole Exome Sequencing

  • Wide range of availability and cost-effective.
  • Agricultural and medicinal applications
  • Wide sequence coverage (above 120X)
  • Detection of coding single-nucleotide polymorphism (SNP) variants
  • Smaller data set needed for faster and easier analysis compared to WGS.

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